Volume :2/ issue : 2/ Jul Dec 2013

REVIEW ARTICLE Medical Science

Large size head - An overview

AmitAgrawal*

*Dr. AmitAgrawal Professor, Department of Neurosurgery, Narayana Medical College Hospital,

Chinthareddypalem, Nellore, Andhra Pradesh (India)

Address for correspondence

Dr. Amit Agrawal Email- dramitagrawal@gmail.com

Abstract:
AFFILIATION
A large size had or macrocrania (and macrocephaly) is one of the common pediatric neurological
Abstract
conditions that affect up to 5% of the population. An abnormally large head may be due to the true
Objective
enlargement of the brain(megalencephaly) or may be due to many other underlying conditions i.e.
hydrocephalus or cranial thickening. A number of disorders can lead to a large size of head in neonates
and children and it is important to identify and recognize even subtle cases, and causes, and diagnose
major and easily treatable causes. The purpose of the present article is to discuss the etiological and
clinical features of various disorders causing an abnormally large head that may or may not require
surgical intervention.

Key words: Congenital hydrocephalus, hydrocephalus, macrocephaly, pediatric, intracranial pressure

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Introduction
CSF pathways) with progressive enlargement of
A large size head or macrocrania (and 13, 14
the ventricles, subarachnoid spaces, or both,
macrocephaly) is one of the common pediatric
rarely it can be due to an imbalance between CSF
neurological conditions that affect up to 5% of the 13
1, 2
production and absorption. These disorders can
population. It is defined as a head
be grouped as congenital or acquired.Common
circumference which is greater than 2 standard
developmental causes of hydrocephalus include
deviations larger than the average for a given age
3-5
aqueductal abnormalities (forking, stenosis,
and gender. An abnormally large head can be
septation, gliosis), the Dandy-Walker
megalencephaly (true enlargement of the brain) or 15
malformation and less common causes are
due to many other underlying conditions i.e.
5, 6
foramen of Monro atresia, skull base anomalies,
hydrocephalus or cranial thickening. It is
intracranial cyst, craniosynostosis, encephalocele,
important to identify and recognize even subtle
holoprosencephaly, hydranencephaly, and
cases, and causes, and diagnose major and easily
1, 3
lissencephaly. 16 Hydrocephalus in infants may be
treatable causes. The purpose of the present 17, 18
the result of prenatal or postnatal infection.
article is to discuss the etiological factors and
Hydrocephalus can be the sequela of neonatal
clinical features of various disorders causing an
intracranial hemorrhage particularly in the
abnormally large head that may or may not 19-21
preterm neonates. there may be benign
require surgical intervention.
enlargement of the subarachnoid space with a self
Etiology limiting course and of unknown etiology (i.e.
A number of disorders can lead to a large size of external hydrocephalus, extra ventricular
head in neonates and children (although this is not hydrocephalus and benign subdural effusions).
by any means a complete exhaustive listing)
Clinical evaluation
(Table-1). 5 Hydrocephalus is a relatively
Clinical evaluation of a child with a large head is
aimed not only to determine the etiology but also
to plan the best possible treatment option and
common cause of large size of head in children is
7-10
rehabilitation. It has been estimated that a
hydrocephalus, with an incidence of about 0.9
11, 12
newborn's head size is usually about 2 centimeters
per 1,000 births. It is characterized by
larger than the chest at birth. Between 6 months
excessive CSF volume (may be due to
and 2 years of age, both are almost equal and after
overproduction or may be due blockage of the

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3, 31
2 years, the chest becomes larger than the head require surgery or can be followed up.
22
size. Any increase in head circumference that Although the classical assessment considers
4
out of proportion to the child's height and weight mainly the head circumference measurement,
needs close attention and the serial measurements baseline imaging of the brain will help to define
will show an increased rate of head growth than a the underlying etiology and in combination with
23-26
single measurement. Clinical details should clinical findings will determine the need for
6
include any history suggestive of symptoms and surgical versus nonsurgical management. The
signs of raised intracranial pressure (increased imaging modalities available for the diagnosis are
head circumference, full or bulging fontanelle, ultrasonography, computed tomography, and/or
widened sutures, poor feeding, vomiting, MRI. 32-34 Imaging will determine the cause of the
irritability, visual impairment, headache, lethargy, enlargement of the different structures of the head
4,
stupor, sixth nerve palsy and papilledema etc.). e.g. scalp, skull, subdural region, subarachnoid
9, 27-29
Physical findings focused to confirm the space, brain parenchyma, intraparenchymal
35
findings of bulging fontanelles, widened sutures, vessels, and ventricles. Magnetic resonance
neurological abnormalities or any delay in imaging will further delineate presence of a retro-
4, 9, 27-29
developmental milestones. cerebellar cyst, isolation of the fourth ventricle,
porencephaly, postventriculitis encystment, or
Investigations
any intracranial tumor.9, 36, 37
It need not to be emphasized that there is a need to
establish the underlying cause of the large size Management
head as the treatment and outcome will depend on The management of a child with a large size of
6
the underlying etiology. A number of head depends on the underlying pathology and
investigations may be needed to determine the associated anomalies. A child with obstructive
exact cause of the large size of head and an hydrocephalus will require a procedure for CSF
appropriated test can be carried depending on the diversion (may be a shunt or endoscopic third
6 9, 38-44
clinical suspicion (Table-3). With the ventriculostomy). A child with posterior
availability of computed tomographic (CT) fossa tumor may not only need the decompression
scanners, it has become easy to evaluate of the tumor but also may require CSF diversion.
30 9, 42-44
intracranial contents. The CT scan findings can Patient with congenital diseases and genetic
provide important information about the disorders those who do not have surgical causes
underlying pathology (i.e. hydrocephalus or of large size head will need anti-epileptics to
45
tumors) that can help to predict whether the child control seizures and rehabilitation for any

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physical disabilities i.e. visual and hearing impair- clinical parameters as these can be the external
ment and other congenital abnormalities (e.g. manifestation benign or more complicated
myelo-menigocoele).46-49 In spite of many medical conditions. However, the approach to
available options and advances for the each case should be individualized and
management of hydrocephalus the natural history appropriate investigations will help to define the
for untreated hydrocephalus is poor, with 50% treatment strategy. A detailed clinical history;
mortality before 3 years of age and only 20-23% thorough physical examination, detailed
of children reaching adult life. 50

Conclusion
developmental assessment and serial head
The present review provides a birds eye view of
circumference measurements, will give the clues
different causes of a large size of head in children.
Measuring the head size, growth rate including a not only for the differential diagnosis but also will
note about the shape of the head are important help to determine the prognosis.

Table 1
Causes of large heads
Normal infant with familial large heads

Hydrocephalus

Acquired Congenital
Posthemorrhage Aqueductal stenosis
Postinfection Congenital malformations
Meningitis Arnold Chiari malformation
Encephalitis Dandy Walker cysts
Abscess Immature arachnoid villi
Posterior fossa tumors Hydranencephaly- absence of cerebral hemispheres.
Tumors about the third ventricle + transillumination
Cerebral hemispheric tumors
Megalocephaly- increase in brain substance
Post-traumatic

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Genetic Diseases

Alexander disease Hemimegalencephaly

Aminoacidurias Leukodystophies
Autosomal dominant benign familial Lysosomal storage diseases
megalencephaly Mucopolysaccharidoses
Canavan disease Neurocutaneous syndromes
Cerebral gigantism Overgrowth syndromes (Sotos, Weaver, and
Chromosome abnormalities Simpson-Golabi syndromes)
Familial Megalencephaly Skeletal dysplasias
Fragile X syndrome Tay Sachs
Glutaric acidurias

Table-2

Clinical approach to a child with large head

Details of Clinical Picture

Symptoms History physical examination

Increased intracranial Trauma Widened sutures

pressure Prematurity Bulging anterior fontanel
Lethargy Infections Prominent scalp veins
Poor feeding Detailed developmental assessment Sun set sign in eyes
Irritability Abnormal tone and increased
Vomiting Any family history of neurological DTRs
disorders
Clinical evaluation for midline
spinal lesions
Intracranial bruits
Transillumination

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Table 3

Investigations in a case of large size head

Radiology Lab investigations

CT and/or MRI (to look for hydrocephalus, congenital Blood sugar

malformation, vascular lesions, subdural collections of
Urea/electrolytes
fluid, and degenerative changes)
Thyroid function test

Plasma amino acids

Urine amino acids and organic acids,

glycosaminoglycans

References
1. Hamill PV, Drizd TA, Johnson CL, Reed RB,
6. Medina LS, Frawley K, Zurakowski D, Buttros D,
Roche AF, Moore WM. Physical growth: National Center
DeGrauw AJ, Crone KR. Children with macrocrania:
for Health Statistics percentiles. The American journal of
clinical and imaging predictors of disorders requiring
clinical nutrition 1979;32:607-629.
surgery. AJNR American journal of neuroradiology
2. Alvarez LA, Maytal J, Shinnar S. Idiopathic 2001;22:564-570.
external hydrocephalus: natural history and relationship to
7. Becker LE. Infections of the developing brain.
benign familial macrocephaly. Pediatrics 1986;77:901-907.
AJNR American journal of neuroradiology 1992;13:537-
3. Vertinsky AT, Barnes PD. Macrocephaly, 549.
increased intracranial pressure, and hydrocephalus in the
8. Fitz CR. Inflammatory diseases of the brain in
infant and young child. Topics in Magnetic Resonance
childhood. AJNR American journal of neuroradiology
Imaging 2007;18:31.
1992;13:551-567.
4. Amiel-Tison C, Njiokiktjien C, Vaivre-Douret L,
9. Barnes PD, Poussaint TY, Burrows PE. Imaging of
Verschoor CA, Chavanne E, Garel M. Relation of early
pediatric central nervous system infections. Neuroimaging
neuromotor and cranial signs with neuropsychological
clinics of North America 1994;4:367-391.
outcome at 4 years. Brain & development 1996;18:280-286.
10. McLone DG, Naidich TP. Developmental
5. Dias MS, Li V. Pediatric neurosurgical disease.
morphology of the subarachnoid space, brain vasculature,
Pediatric clinics of North America 1998;45:1539-1578, x.
and contiguous structures, and the cause of the Chiari II
malformation. AJNR American journal of neuroradiology
1992;13:463-482.

90
Volume :2/ issue : 2/ Jul Dec 2013
11. Macmahon B, Pugh TF, Ingalls TH. Anencephalus,
spina bifida, and hydrocephalus incidence related to sex,
race, and season of birth, and incidence in siblings. British
journal of preventive & social medicine 1953;7:211-219.
12. Zahl SM, Wester K. Routine measurement of head
circumference as a tool for detecting intracranial expansion
in infants: what is the gain? A nationwide survey. Pediatrics
2008;121:e416-420.
13. Carey C, Tullous M, Walker M. Hydrocephalus:
etiology, pathologic effects, diagnosis and natural history.
Pediatric Neurosurgery Surgery of the Developing Nervous
System 3rd edn Philadelphia: WB Saunders Co USA
1994:185-201.
14. Raimondi AJ. A unifying theory for the definition
and classification of hydrocephalus. Child's nervous system
: ChNS : official journal of the International Society for
Pediatric Neurosurgery 1994;10:2-12.
15. Altman NR, Naidich TP, Braffman BH. Posterior
fossa malformations. AJNR American journal of
neuroradiology 1992;13:691-724.
16. Naidich TP, Altman NR, Braffman BH, McLone
DG, Zimmerman RA. Cephaloceles and related
malformations. AJNR American journal of neuroradiology
1992;13:655-690.
17. Baker LL, Stevenson DK, Enzmann DR. End-stage
periventricular leukomalacia: MR evaluation. Radiology
1988;168:809-815.
18. Bale JF. Congenital infections. Neurologic clinics
2002;20:1039-1060, vii.
19. Rorke LB, Zimmerman RA. Prematurity,
postmaturity, and destructive lesions in utero. AJNR
American journal of neuroradiology 1992;13:517-536.
20. Kazan S, Gra A, Uar T, Korkmaz E, Ongun H,
Akyuz M. Hydrocephalus after intraventricular hemorrhage
in preterm and lowbirth weight infants: analysis of
associated risk factors for ventriculoperitoneal shunting.
Surgical neurology 2005;64:S77-S81.
21. Garton HJL, Piatt JH. Hydrocephalus. Pediatric
clinics of North America 2004;51:305-325.
22. Cooney K, Pathak U, Watson A. Infant growth
charts. Archives of disease in childhood 1994;71:159-160.
23. Bray PF, Shields WD, Wolcott GJ, Madsen JA.
Occipitofrontal head circumference--an accurate measure of
intracranial volume. The Journal of pediatrics 1969;75:303-
305.
24. Buda FB, Reed JC, Rabe EF. Skull volume in
infants. Methodology, normal values, and application.
American journal of diseases of children (1960)
1975;129:1171-1174.
25. Alexander GR, Himes JH, Kaufman RB, Mor J,
Kogan M. A United States national reference for fetal
growth. Obstetrics and gynecology 1996;87:163-168.
26. DeMyer W. Megalencephaly: types, clinical
syndromes, and management. Pediatric neurology
1986;2:321-328.
27. Bodensteiner JB, Chung EO. Macrocrania and
megalencephaly in the neonate. Seminars in neurology
1993;13:84-91.
28. Gooskens RH, Willemse J, Faber JA, Verdonck
AF. Macrocephalies--a differentiated approach.
Neuropediatrics 1989;20:164-169.
29. Smith R, Leonidas JC, Maytal J. The value of head
ultrasound in infants with macrocephaly. Pediatric radiology
1998;28:143-146.
30. Hahn FJ, Chu WK, Cheung JY. CT measurements
of cranial growth: normal subjects. AJR American journal
of roentgenology 1984;142:1253-1255.
31. Kingsley D, Kendall BE. The value of computed
tomography in the evaluation of the enlarged head.
Neuroradiology 1978;15:59-71.
32. Barkovich AJ, Edwards MS. Applications of
neuroimaging in hydrocephalus. Pediatric neurosurgery
1992;18:65-83.
33. Gammal TE, Allen MB, Brooks BS, Mark EK. MR
evaluation of hydrocephalus. AJR American journal of
roentgenology 1987;149:807-813.
91
Volume :2/ issue : 2/ Jul Dec 2013
34. Quencer RM. Intracranial CSF flow in pediatric
hydrocephalus: evaluation with cine-MR imaging. AJNR
American journal of neuroradiology 1992;13:601-608.
35. Cogulu O, Aykut A, Kutukculer N, Ozkinay C,
Ozkinay F. Two cases of macrocephaly and immune
deficiency. Clinical dysmorphology 2007;16:81-84.
36. Maytal J, Alvarez LA, Elkin CM, Shinnar S.
External hydrocephalus: radiologic spectrum and
differentiation from cerebral atrophy. AJR American journal
of roentgenology 1987;148:1223-1230.
37. Wilms G, Vanderschueren G, Demaerel PH, et al.
CT and MR in infants with pericerebral collections and
macrocephaly: benign enlargement of the subarachnoid
spaces versus subdural collections. AJNR American journal
of neuroradiology 1993;14:855-860.
38. Frim DM, Goumnerova LC. In vivo intracranial
pressure dynamics in patients with hydrocephalus treated by
shunt placement. Journal of neurosurgery 2000;92:927-932.
39. Tuli S, Drake J, Lawless J, Wigg M, Lamberti-
Pasculli M. Risk factors for repeated cerebrospinal shunt
failures in pediatric patients with hydrocephalus. Journal of
neurosurgery 2000;92:31-38.
40. Chumas PD, Kulkarni AV, Drake JM, Hoffman
HJ, Humphreys RP, Rutka JT. Lumboperitoneal shunting: a
retrospective study in the pediatric population.
Neurosurgery 1993;32:376-383; discussion 383.
41. Cinalli G, Sainte-Rose C, Chumas P, et al. Failure
of third ventriculostomy in the treatment of aqueductal
stenosis in children. Journal of neurosurgery 1999;90:448-
454.
42. Venkataramana NK, Mukundan CR. Evaluation of
functional outcomes in congenital hydrocephalus. Journal of
pediatric neurosciences 2011;6:4-12.
43. Flodmark O. Neuroradiology of selected disorders
of the meninges, calvarium, and venous sinuses. AJNR
American journal of neuroradiology 1992;13:483-491.
44. McComb JG. Cerebrospinal fluid physiology of the
developing fetus. AJNR American journal of
neuroradiology 1992;13:595-599.
45. Bourgeois M, Sainte-Rose C, Cinalli G, et al.
Epilepsy in children with shunted hydrocephalus. Journal of
neurosurgery 1999;90:274-281.
46. Hoppe-Hirsch E, Laroussinie F, Brunet L, et al.
Late outcome of the surgical treatment of hydrocephalus.
Child's nervous system : ChNS : official journal of the
International Society for Pediatric Neurosurgery
1998;14:97-99.
47. Donders J, Canady AI, Rourke BP. Psychometric
intelligence after infantile hydrocephalus. A critical review
and reinterpretation. Child's nervous system : ChNS :
official journal of the International Society for Pediatric
Neurosurgery 1990;6:148-154.
48. Dennis M, Fitz CR, Netley CT, et al. The
intelligence of hydrocephalic children. Archives of
neurology 1981;38:607-615.
49. Casey AT, Kimmings EJ, Kleinlugtebeld AD,
Taylor WA, Harkness WF, Hayward RD. The long-term
outlook for hydrocephalus in childhood. A ten-year cohort
study of 155 patients. Pediatric neurosurgery 1997;27:63-
70.
50. Yashon D, Jane JA, Sugar O. The course of severe
untreated infantile hydrocephalus. Prognostic significance
of the cerebral mantle. Journal of neurosurgery
1965;23:509-516.
92